Results 71 to 80 of about 2,696,264 (156)

Ubiquitin and ubiquitin‐like modifications in the endoplasmic reticulum stress response

The FEBS Journal, Volume 293, Issue 18, Page 5481-5513, September 2026.
Endoplasmic reticulum (ER) stress activates various proteostasis control processes, including the unfolded protein response, ribosome‐associated quality control, and ER‐associated degradation. Ubiquitin and ubiquitin‐like modifications dynamically regulate these processes to determine cell fate, promoting adaptation or inducing cell death.
Tony Avril, Matthieu Le Gallo, Elodie Lafont   +2 more
wiley   +1 more source

Molecular characterization of WFS1 in patients with Wolfram syndrome.

, 2003
Item does not contain fulltextWolfram (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) syndrome is a rare autosomal-recessive neurodegenerative disorder that is characterized by juvenile-onset diabetes mellitus, optic atrophy ...
Maassen, J.A., Van Camp, G, Dikkeschei, L.D., Van den Ouweland, JMW, Camp, G. van, Walraven, Inge, Cryns, Kim, Lindhout, Dick, Lindhout, D, Alexander B. Arntzenius, Veldhuijzen, Bernard F.E., Janssen, G.M., Janssen, GMC, Cremers, C.W.R.J., Inge Walraven, Lindhout, D., van den Ouweland, Johannes M.W., Cryns, K., Lambert D. Dikkeschei, Cryns, K, Veldhuijzen, B.F., Johannes M.W. Van Den Ouweland, Pennings, R.J.E., Ouweland, J.M.W. van den, Bernard F.E. Veldhuijzen, Maassen, J. Antonie, Dick Lindhout, Cremers, Cor W.R.J., Dikkeschei, Lambert D., J. Antonie Maassen, Walraven, I., Walraven, [No Value], Arntzenius, AB, Pennings, Ronald J.E., Arntzenius, Alexander B., Kim Cryns, Dikkeschei, LD, George M.C. Janssen, Arntzenius, A.B., Ronald J.E. Pennings, Veldhuijzen, BFE, Janssen, George M.C., Cor W.R.J. Cremers, Pennings, RJE, Maassen, JA, Van Camp, Guy, Guy Van Camp, Cremers, CWRJ   +47 more
core   +1 more source

Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss

Molecular Genetics & Genomic Medicine, 2020
Background Hereditary hearing loss (HL) is heterogeneous in terms of their phenotypic features, modes of inheritance, and causative gene mutations. The contribution of genetic variants to sporadic HL remains largely expanding. Either recessive or de novo
Jing Guan, Hongyang Wang, Lan Lan, Yusen Wu, Guohui Chen, Cui Zhao, Dayong Wang, Qiuju Wang   +7 more
doaj   +1 more source

Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review

Biomedicines, 2023
Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one dominant allele within the disease gene is sufficient to express the phenotype.
Mirko Aldè, Giovanna Cantarella, Diego Zanetti, Lorenzo Pignataro, Ignazio La Mantia, Luigi Maiolino, Salvatore Ferlito, Paola Di Mauro, Salvatore Cocuzza, Jérôme René Lechien, Giannicola Iannella, Francois Simon, Antonino Maniaci   +12 more
doaj   +1 more source

An Integrated and Robust Deep Learning Framework for Denoising and Analyzing Single‐Cell Spatial Transcriptomics

Advanced Intelligent Systems, Volume 8, Issue 8, August 2026.
Single‐cell Spatial Transcriptomics Analysis and Denoising Engine is introduced as a unified deep learning framework that jointly performs denoising, clustering, and gene prioritization in spatial transcriptomics. By integrating linear and nonlinear representations within a dual‐channel architecture, it improves robustness and accuracy, uncovers ...
Yaxuan Cui, Yang Cui, Ruheng Wang, Xin Zeng, Zheyong Zhu, Ding Yi, Ruihua Guo, Tetsuya Sakurai, Kenta Nakai, Xiucai Ye, Leyi Wei, Yong Chen   +11 more
wiley   +1 more source

Novel WFS1 variants are associated with different diabetes phenotypes

Frontiers in Genetics
BackgroundThe WFS1 gene encodes the protein wolframin, which is crucial for maintaining endoplasmic reticulum homeostasis. Variants in this gene are predominantly associated with Wolfram syndrome and have been implicated in other disorders such as ...
Lei Wu, Juan Zhang, Danjie Li, Zhongyun Zhang, Qicheng Ni, Qicheng Ni, Rulai Han, Rulai Han, Lei Ye, Lei Ye, Yifei Zhang, Yifei Zhang, Jie Hong, Jie Hong, Weiqing Wang, Weiqing Wang, Guang Ning, Guang Ning, Weiqiong Gu, Weiqiong Gu   +19 more
doaj   +1 more source

Regional Functional Molecular Profiles Within the Mammalian Cortex: A Commentary on Limbic Mesocortex

Journal of Comparative Neurology, Volume 534, Issue 8, August 2026.
Two lateral mouse brain sagittal sections labeled, respectively, for Lypd1 (A) and Kcnab3 (B). (A) Lypd1 labels positively cortical Layers 2 and 5 (less heavily), but only at limbic mesocortical sites, forming the limbic ring that separates the unlabeled isocortex (IsoCx) from the unlabeled hippocampal and olfactory allocortex (Hi, Sub, ERh; OlfCx ...
Luis Puelles, Elena Garcia‐Calero
wiley   +1 more source

Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population‐Specific Variants and Clinical Correlations

Clinical Genetics, Volume 110, Issue 2, Page 210-226, August 2026.
The Burden: Hearing loss (HL) is the most prevalent sensory disorder globally, affecting 1.5 million individuals in Brazil. The Gap: While > 150 genes are linked to HL, the genetic architecture in underrepresented populations like Brazil is poorly defined. The Problem: This lack of data limits diagnostic yield and the application of precision medicine.
Stella Diogo‐Cavassana, Danillo Alencar‐Coutinho, Rafaella Abreu‐Oberhuber, Maria Eduarda Paramo‐Neto, Jeanne Oiticica, Ricardo Ferreira Bento, Ana Carla Batissoco, Karina Lezirovitz   +7 more
wiley   +1 more source

Hypothalamic gene expression profile indicates a reduction in G protein signaling in theWfs1mutant mice

, 2011
The Wfs1 gene codes for a protein with unknown function, but deficiency in this protein results in a range of neuropsychiatric and neuroendocrine syndromes.
Mario Plaas, Leonard C. Schalkwyk, Klari Noormets, Soomets, U., Ursel Soomets, Tillmann, V., Schalkwyk, L.C., Plaas, Mario, Anton Terasmaa, Vasar, Eero, Schalkwyk, Leonard C., Plaas, M., Tillmann, Vallo, Terasmaa, Anton, Cathy Fernandes, Vasar, E., Soomets, Ursel, Kõks, S., Fernandes, Cathy; id_orcid, Fernandes, Cathy, Kõks, Sulev, Schalkwyk, Leonard C, Sulev Kõks, Fernandes, C., Noormets, Klari, Terasmaa, A., Vallo Tillmann, Noormets, K., Eero Vasar   +28 more
core   +1 more source

WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis. [PDF]

PLoS ONE, 2018
A heterozygous mutation in the Wolfram syndrome type 1 gene (WFS1) causes autosomal dominant nonsyndromic hereditary hearing loss, DFNA6/14/38, or Wolfram-like syndrome.
Masafumi Kobayashi, Maiko Miyagawa, Shin-Ya Nishio, Hideaki Moteki, Taro Fujikawa, Kenji Ohyama, Hirofumi Sakaguchi, Ikuyo Miyanohara, Akiko Sugaya, Yasushi Naito, Shin-Ya Morita, Yukihiko Kanda, Masahiro Takahashi, Kotaro Ishikawa, Yuki Nagano, Tetsuya Tono, Chie Oshikawa, Chiharu Kihara, Haruo Takahashi, Yoshihiro Noguchi, Shin-Ichi Usami   +20 more
doaj   +1 more source